HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135787926T>A , CM000664.2:g.135787926T>A | GRCh38 |
NC_000002.11:g.136545496T>A , CM000664.1:g.136545496T>A | GRCh37 |
NC_000002.10:g.136261966T>A | NCBI36 |
NG_008104.2:g.72244A>T , LRG_338:g.72244A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.*398A>T MANE Select | ENSP00000264162.2:n.*398A>T | |
ENST00000264162.6:c.*398A>T | ENSP00000264162.2:n.*398A>T | |
NM_002299.2:c.*398A>T , LRG_338t1:c.*398A>T | NP_002290.2:n.*398A>T | |
NM_002299.3:c.*398A>T | NP_002290.2:n.*398A>T | |
NM_002299.4:c.*398A>T MANE Select | NP_002290.2:n.*398A>T |